OnlineIMD
Superoxide dismutase 1 deficiency
Type
Disease
Gene
SOD1
/ Superoxide Dismutase 1
21q22.11
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Superoxide dismutase [Cu-Zn]
Disease group(s)
13.2 Disorders of reactive oxygen species metabolism
Child entries
Amyotrophic lateral sclerosis type 1
Progressive Spastic Tetraplegia and Axial Hypotonia